Canonical Allele Identifier: CA2695233807
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689045_48689046delinsTT , CM000685.2:g.48689045_48689046delinsTT GRCh38
NC_000023.10:g.48547434_48547435delinsTT , CM000685.1:g.48547434_48547435delinsTT GRCh37
NC_000023.9:g.48432378_48432379delinsTT NCBI36
NG_007877.1:g.10249_10250delinsTT , LRG_125:g.10249_10250delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.561_562delinsTT
ENST00000698625.1:c.1317_1318delinsTT ENSP00000513844.1:p.Arg440Ter
ENST00000698626.1:c.1317_1318delinsTT ENSP00000513845.1:p.Arg440Ter
ENST00000698635.1:c.1317_1318delinsTT ENSP00000513850.1:p.Arg440Ter
ENST00000376701.5:c.1317_1318delinsTT MANE Select ENSP00000365891.4:p.Arg440Ter
ENST00000376701.4:c.1317_1318delinsTT ENSP00000365891.4:p.Arg440Ter
ENST00000470107.1:n.26_27delinsTT
NM_000377.2:c.1317_1318delinsTT , LRG_125t1:c.1317_1318delinsTT NP_000368.1:p.Arg440Ter
XM_011543977.1:c.1161_1162delinsTT XP_011542279.1:p.Arg388Ter
XM_011543977.2:c.1161_1162delinsTT XP_011542279.1:p.Arg388Ter
XM_017029786.1:c.1317_1318delinsTT XP_016885275.1:p.Arg440Ter
NM_000377.3:c.1317_1318delinsTT MANE Select NP_000368.1:p.Arg440Ter